Key result
A novel hemizygous IVS6+3_+6delGAGT mutation in the LAMP-2 gene was identified in a 16-year-old male with Danon disease, severe myopathy, and a history of two heart transplants.
Case Report (n=1)
This case report identifies a novel LAMP-2 splice site deletion mutation causing Danon disease in a patient with early-onset severe hypertrophic cardiomyopathy requiring heart transplantation.
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May prompt inclusion of this LAMP-2 variant in HCM genetic panels; extends mutation spectrum but remains hypothesis-generating.
Bui et al. (2008) conducted a case report in Danon disease (n=1). LAMP-2 gene mutation (IVS6+3_+6delGAGT) was evaluated. A novel hemizygous IVS6+3_+6delGAGT mutation in the LAMP-2 gene was identified in a 16-year-old male with Danon disease, severe myopathy, and a history of two heart transplants.
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